We present the case of a young girl in whom a chromosome 18p deletion syndrome (46,XX,del[18][p11.1]) was associated not only with IgA deficiency, but also with an inability to make antibody to the unconjugated pneumococcal polysaccharide vaccine, Pneumovax[ncbi.nlm.nih.gov]

This case report presents with characteristic features along with rare feature of single nostril.[ncbi.nlm.nih.gov]

The phenotype is highly variable, but is characterized by mental retardation, short stature, hypotonia, hearingimpairment, and foot deformities. The syndrome is often accompanied by selective IgA deficiency and associated autoimmune disease.[catalog.coriell.org]

The main clinical manifestations are mental retardation, growth retardation, craniofacial dysmorphism including roundface, dysplastic ears, wide mouth and dental anomalies, and abnormalities of the limbs, genitalia, brain, eyes, and heart.[omim.org]

The main clinical features are short stature, roundface with short philtrum, palpebral ptosis and large ears with detached pinnae. Intellectual deficiency is mild to moderate.[orpha.net]

Affected neonates are hypotonic and have low birth weight, microcephaly, a roundface with wide-set eyes, downward slanting of the palpebral fissures (with or without epicanthal folds), strabismus, and a broad-based nose.[merckmanuals.com]

Initial Blood Workup Urine Tests During Pregnancy The Benefits of Prenatal Testing The 6 Most Common Genetic Screenings and Tests During Pregnancy It’s important to understand that microdeletions are present from conception and not a result of anything[whattoexpect.com]

The baby was kept under regular follow-up as there were no observable signs and symptoms for immediate treatment.[jisppd.com]

Treatment is based on the signs and symptoms present in each person. This page is meant to provide general information about 18p deletions. You can contact GARD if you have questions about a specific deletion on chromosome 18.[malacards.org]

There is a poor prognosis for those with severe brain malformations, most often they die in the newborn. There is low recurrence risk rate to siblings for those cases that arise de novo.[jisppd.com]

Prognosis Except for the patients with severe brain malformations, the life expectancy does not seem significantly reduced. The documents contained in this web site are presented for information purposes only.[orpha.net]

Prognosis The prognosis is poor for those patients with severe brain malformations; most often they die in the newborn period.[doi.org]

Prognosis is highly varied. Is there prenatal testing for 18q-Syndrome? 18q-Syndrome only appears in approximately 1 in every 40,000 births.[ulf.org]

Etiology In two-thirds of the cases, the 18p- syndrome is due to a mere terminal deletion occurring de novo.[orpha.net]

Handbook of Genetic Counseling This page may need to be reviewed for quality. 18q Deletion Syndrome Genetic Etiology [ edit ] Caused by the deletion of the long arm of chromosome 18 (or, more often, a section of it) Incidence and Carrier Frequency [ edit[en.wikibooks.org]

Ten to fifteen percent of people with 18p- have holoprosencephaly, suggesting that other genetic and environmental facts play a role in the etiology of holoprosencephaly in these individuals.[en.wikipedia.org]

Summary Epidemiology The incidence is estimated to be about 1:50,000 live-born infants. Clinical description In the commonest form of the disorder, the dysmorphic syndrome is very moderate and non-specific.[orpha.net]

Cleft lip with or without cleft palate (CL/CP) differs from an isolated cleft palate (CP) on embryonic, epidemiologic, and genetic levels.[perioimplantadvisory.com]

Epidemiology More than 150 patients have been reported worldwide and most cases are no longer subject to publication. The incidence of the disorder could be estimated as about 1:50,000 live-born infants. The female to male ratio is 3/2.[doi.org]

If parents wish to have a child then in vitro fertilization can be advised with embryo biopsy and only healthy embryos are transferred to mother uterus to prevent transmission of 18p deletion. [8] Table 1: Clinical features observed in deletion of the[jisppd.com]

Health information on this site is based on peer-reviewed medical journals and highly respected health organizations and institutions including ACOG (American College of Obstetricians and Gynecologists), CDC (Centers for Disease Control and Prevention[whattoexpect.com]

For the National Birth Defects Prevention Network. Updated national birth prevalence estimates for selected birth defects in the United States. 2004-2006. Birth Defects Research (Part A): Clinical and Molecular Teratology 2010;88:1008-1016. 3.[perioimplantadvisory.com]

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